ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1242+15A>C

gnomAD frequency: 0.00026  dbSNP: rs750532418
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002189737 SCV002346076 likely benign Familial hyperkalemic periodic paralysis 2021-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706286 SCV005211240 likely benign not provided criteria provided, single submitter not provided

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